PMID- 10453739
OWN - NLM
STAT- MEDLINE
DCOM- 19990902
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 6
DP  - 1999 Jun
TI  - Molecular cloning and characterization of the human NUDC gene.
PG  - 498-504
AB  - In both Aspergillus nidulans and the mouse, studies of the nuclear distribution
      gene C (NudC) have strongly suggested that the NudC protein interacts with NudF, 
      which is the product of NudF, a homologue of human LIS1 (also know as PAFAH1B1), 
      one of the causative genes for classical lissencephaly. We have isolated the
      human NUDC gene and its two processed pseudogenes. The human NUDC gene is highly 
      conserved and its predicted amino acid sequence shows 94% identity to mouse NudC 
      and 95% identity to rat NudC. The genomic structure of NUDC, its chromosomal
      localization, and expression pattern in human tissues were characterized. NUDC
      consists of at least 9 exons ranging from 66 bp to 266 bp in size and 8 introns
      from 92 bp to 2.0 kb in length, and the total genomic region spans about 8 kb.
      NUDC was mapped to 1p34-p35 by fluorescence in situ hybridization. Northern
      analysis showed a major 1.6 kb transcript in all fetal and adult tissues
      examined. Primers which amplify individual exons of NUDC were developed for
      mutation analysis.
FAU - Matsumoto, N
AU  - Matsumoto N
AD  - Department of Human Genetics, The University of Chicago, IL 60637, USA.
FAU - Ledbetter, D H
AU  - Ledbetter DH
LA  - eng
SI  - GENBANK/AF125465
SI  - GENBANK/AF125466
SI  - GENBANK/AF125467
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (NUDC protein, human)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Nudc protein, mouse)
RN  - 0 (Proteins)
RN  - EC 3.1.1.47 (1-Alkyl-2-acetylglycerophosphocholine Esterase)
RN  - EC 3.1.1.47 (PAFAH1B1 protein, human)
RN  - EC 3.1.1.47 (Pafah1b1 protein, mouse)
SB  - IM
MH  - 1-Alkyl-2-acetylglycerophosphocholine Esterase
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Brain/metabolism
MH  - Cell Cycle Proteins
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 2
MH  - Cloning, Molecular
MH  - Exons
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Introns
MH  - Mice
MH  - *Microtubule-Associated Proteins
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - Nuclear Proteins
MH  - Proteins/*genetics/metabolism
MH  - Rats
MH  - Sequence Homology, Amino Acid
MH  - Tissue Distribution
EDAT- 1999/08/24 00:00
MHDA- 1999/08/24 00:01
CRDT- 1999/08/24 00:00
PHST- 1999/08/24 00:00 [pubmed]
PHST- 1999/08/24 00:01 [medline]
PHST- 1999/08/24 00:00 [entrez]
AID - 10.1007/s004390050994 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jun;104(6):498-504. doi: 10.1007/s004390050994.